, Volume 25, Issue 4, pp 411-413
Date: 18 Dec 2003

EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome

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The combination of an asymmetric crying face and heart defect has been termed cardiofacial syndrome. This “syndrome” is etiologically heterogeneous and a subset of patients have 22q11.2 deletions. We present a female with Cayler’s cardiofacial syndrome phenotype who had a frameshift mutation of the EYA1 gene. We conclude that EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.